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Article

Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

Clinical endocrinology - 1 Oct 2007

Estalella Itziar, Rica Itxaso, Perez de Nanclares Guiomar, Bilbao Jose Ramon, Vazquez Jose Antonio, San Pedro Jose Ignacio, Busturia Maria Angeles, Castaño Luis

Abstract excerpt

OBJECTIVE: The aim of this study was to group patients with MODY (maturity-onset diabetes of the young) according to the genetic alterations underlying the disease and to investigate their clinical characteristics. PATIENTS AND METHODS: Molecular analysis of GCK (MODY2), HNF-1alpha (MODY3), HNF-4alpha (MODY1) and HNF-1beta (MODY5) genes was performed by DNA sequencing in 95 unrelated index probands (47M/48F; mean...

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Source

Identifiers

PMID: 17573900
DOI: 10.1111/j.1365-2265.2007.02921.x

Genes

GCK

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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